日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.

HPDL 功能缺失变异体通过改变线粒体功能损害人类皮层发育。

Baggiani Matteo, Desbats Maria Andrea, Naef Valentina, Giacich Michela, Galatolo Daniele, Mero Serena, Zampieri Sara, Cappello Valentina, Valentino Agata, Salviati Leonardo, Santorelli Filippo Maria, Damiani Devid

A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease

FDX2基因中的一种新突变为MEOAL线粒体神经肌肉疾病的发病机制提供了新的见解

Doni, Davide; Grifagni, Deborah; Cavion, Federica; Buchignani, Bianca; Battini, Roberta; Baschiera, Elisa; Desbats, Maria Andrea; Pasquariello, Rosa; Covello, Giuseppina; De Pascale, Eva; Boarolo, Alice; Cestonaro, Ilaria; Badocco, Denis; Pastore, Paolo; Sartori, Geppo; Stehling, Oliver; Lill, Roland; Santorelli, Filippo M; Salviati, Leonardo; Ciofi-Baffoni, Simone; Costantini, Paola

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

鉴定出一种新的COQ4剪接变异体,该变异体可导致严重的原发性辅酶Q缺乏症。

Alcázar-Fabra, María; Østergaard, Elsebet; Fernández-Ayala, Daniel J M; Desbats, María Andrea; Morbidoni, Valeria; Tomás-Gallado, Laura; García-Corzo, Laura; Blanquer-Roselló, María Del Mar; Bartlett, Abigail K; Sánchez-Cuesta, Ana; Sena, Lucía; Cortés-Rodríguez, Ana; Cascajo-Almenara, María Victoria; Pagliarini, David J; Trevisson, Eva; Gronborg, Sabine W; Brea-Calvo, Gloria

Retinoic acid receptor activation reprograms senescence response and enhances anti-tumor activity of natural killer cells

视黄酸受体激活可重编程衰老反应并增强自然杀伤细胞的抗肿瘤活性

Manuel Colucci ,Sara Zumerle ,Silvia Bressan ,Federico Gianfanti ,Martina Troiani ,Aurora Valdata ,Mariantonietta D'Ambrosio ,Emiliano Pasquini ,Angelica Varesi ,Francesca Cogo ,Simone Mosole ,Cristina Dongilli ,Maria Andrea Desbats ,Liliana Contu ,Ajinkya Revankdar ,Jingjing Chen ,Madhuri Kalathur ,Maria Luna Perciato ,Rossella Basilotta ,Laczko Endre ,Stefan Schauer ,Alaa Othman ,Ilaria Guccini ,Miriam Saponaro ,Luisa Maraccani ,Nicolò Bancaro ,Ping Lai ,Lei Liu ,Nicolò Pernigoni ,Federico Mele ,Sara Merler ,Lloyd C Trotman ,Greta Guarda ,Bianca Calì ,Monica Montopoli ,Andrea Alimonti

COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells

在真核细胞中,辅酶Q4是辅酶Q C1碳氧化脱羧所必需的。

Ludovic Pelosi ,Laura Morbiato ,Arthur Burgardt ,Fiorella Tonello ,Abigail K Bartlett ,Rachel M Guerra ,Katayoun Kazemzadeh Ferizhendi ,Maria Andrea Desbats ,Bérengère Rascalou ,Marco Marchi ,Luis Vázquez-Fonseca ,Caterina Agosto ,Giuseppe Zanotti ,Morgane Roger-Margueritat ,María Alcázar-Fabra ,Laura García-Corzo ,Ana Sánchez-Cuesta ,Plácido Navas ,Gloria Brea-Calvo ,Eva Trevisson ,Volker F Wendisch ,David J Pagliarini ,Leonardo Salviati ,Fabien Pierrel

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms

基于酵母的检测方法证实了与主动脉瘤相关的新型错义ACTA2变异体的致病性

Calderan, Cristina; Sorrentino, Ugo; Persano, Luca; Trevisson, Eva; Sartori, Geppo; Salviati, Leonardo; Desbats, Maria Andrea

Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle

脊髓延髓肌萎缩症骨骼肌中,兴奋-收缩耦联缺陷和线粒体呼吸作用先于线粒体Ca2+积累。

Caterina Marchioretti # ,Giulia Zanetti # ,Marco Pirazzini # ,Gaia Gherardi ,Leonardo Nogara ,Roberta Andreotti ,Paolo Martini ,Lorenzo Marcucci ,Marta Canato ,Samir R Nath ,Emanuela Zuccaro ,Mathilde Chivet ,Cristina Mammucari ,Marco Pacifici ,Anna Raffaello ,Rosario Rizzuto ,Andrea Mattarei ,Maria A Desbats ,Leonardo Salviati ,Aram Megighian ,Gianni Sorarù ,Elena Pegoraro ,Elisa Belluzzi ,Assunta Pozzuoli ,Carlo Biz ,Pietro Ruggieri ,Chiara Romualdi ,Andrew P Lieberman ,Gopal J Babu ,Marco Sandri ,Bert Blaauw ,Manuela Basso ,Maria Pennuto

OPA1 drives macrophage metabolism and functional commitment via p65 signaling

OPA1 通过 p65 信号传导驱动巨噬细胞代谢和功能承诺

Ricardo Sánchez-Rodríguez, Caterina Tezze, Andrielly H R Agnellini, Roberta Angioni, Francisca C Venegas, Chiara Cioccarelli, Fabio Munari, Nicole Bertoldi, Marcella Canton, Maria Andrea Desbats, Leonardo Salviati, Rosanna Gissi, Alessandra Castegna, Maria Eugenia Soriano, Marco Sandri, Luca Scorran

COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells

COQ4 是真核细胞中辅酶 Q 的 C1 碳氧化脱羧所必需的

Ludovic Pelosi, Laura Morbiato, Arthur Burgardt, Fiorella Tonello, Abigail K Bartlett, Rachel M Guerra, Katayoun Kazemzadeh Ferizhendi, Maria Andrea Desbats, Bérengère Rascalou, Marco Marchi, Luis Vázquez-Fonseca, Caterina Agosto, Giuseppe Zanotti, Morgane Roger-Margueritat, María Alcázar-Fabra, Lau

The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model

丙酮酸激酶激活剂米塔匹伐可减少溶血并改善β-地中海贫血小鼠模型中的贫血。

Matte, Alessandro; Federti, Enrica; Kung, Charles; Kosinski, Penelope A; Narayanaswamy, Rohini; Russo, Roberta; Federico, Giorgia; Carlomagno, Francesca; Desbats, Maria Andrea; Salviati, Leonardo; Leboeuf, Christophe; Valenti, Maria Teresa; Turrini, Francesco; Janin, Anne; Yu, Shaoxia; Beneduce, Elisabetta; Ronseaux, Sebastien; Iatcenko, Iana; Dang, Lenny; Ganz, Tomas; Jung, Chun-Ling; Iolascon, Achille; Brugnara, Carlo; De Franceschi, Lucia